Awareness

Having a loved one with PWS will change you for the better. I’ve spent the last 29 days describing PWS and its symptoms and health consequences. I’ve laid out all of the hurdles PWS has placed and will continue to place in front of Clementine and our family. I’ve tried to illustrate the desperate need …

Several other disorders and conditions are associated with PWS. Some of the more common are obesity and secondary problems due to extreme obesity, diabetes (Type 2), sleep apnea, obsessive-compulsive disorder, infertility and autism-spectrum disorders. As most of you know, Clementine was diagnosed with T1D (Type 1 Diabetes) when she was about 18 months old. This …

The prevalence of obesity in individuals with PWS varies by age groups, although it has been shown to have a prevalence of 40% in children and adolescents. As individuals with PWS enter adulthood, the prevalence of obesity increases to 82% – 98%, depending on the study group. It is well accepted that once excessive weight …

Temperature regulation can be a concern for individuals with PWS. They may overheat on a warm day or be at risk for hypothermia on a cold day. Hypothalamic dysfunction can predispose an individual to thermal dysregulation. This may present as hyper or hypothermia even without an identifiable cause. Hyperthermia ( high body temperature) can occur …

Individuals with PWS suffer from a variety of digestive and gastrointestinal issues (GI), some of which can lead to surgery. Here, we focus on data from the Global PWS Registry to provide information on the prevalence of gastroparesis (delayed stomach emptying), as well as the frequency and types of GI surgeries in PWS. Gastroparesis occurs …

Individuals with PWS can have varying degrees of impaired social skills, social cognition and self-awareness. These can cause anxiety, oversensitivity to perceived threats, quickness to anger, and other behaviors that can lead to social isolation, loneliness, and depression. Most people with PWS are social and enjoy spending time with family and friends. A study of …

Schaaf-Yang syndrome is a genetic condition that affects many parts of the body and is similar to Prader-Willi syndrome. Infants with this syndrome can have low muscle tone (hypotonia), feeding difficulties, developmental delay, intellectual disability, and autism spectrum disorder. They also typically have joint contractures, affecting the finger joints and sometimes the knees and elbows. …

48% of PWS Global Registry participants report anxiety. Anxiety may manifest itself as repetitive questioning, rigidity, obsessively engagement in an activity, talking louder or faster, moving in an agitated way, skin picking, chewing finger, picking lips, tics, etc. and can limit ones ability to participate in life. People with PWS often have tenuous emotional control. …

A formal, best-worst scaling study published in 2018 shows hyperphagia is “the” aspect of PWS that families want addressed through new therapies, followed by other critical behavioral issues such as anxiety and aggression. This study, which has been shared in ongoing discussions with the FDA, quantifies caregiver priorities and further identifies unmet needs in PWS. …

According to the National Institutes for Health, there are currently 20 investigational studies (either ongoing or preparing to enroll participants) that are specifically designed for Prader-Willi Syndrome. These studies are spread throughout the world, in places like the US, Canada, France and Taiwan. The topics being investigated include EDS (excessive daytime sleepiness), hyperphagia, behavior moderation, …